| Autor: |
Aydin C; Department of Nursing, Bucak School of Health, Mehmet Akif Ersoy University, Burdur, Turkey., Cetin Z; Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey., Manguoglu AE; Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Tayfun F; Department of Pediatric Hematology, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Clark OA; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Kupesiz A; Department of Pediatric Hematology, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Akkaya B; Department of Pathology, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Karauzum SB; Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey. |
| Abstrakt: |
Childhood acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia. Specifically, ALL is a malignant disorder of the lymphoid progenitor cells, with a peak incidence among children aged 2-5 years. The t(12;21)(p13;q22) translocation occurs in 25 % of childhood B cell precursor ALL. In this study, bone marrow samples were obtained from 165 patients with childhood ALL. We analyzed the t(12;21) translocation and other related abnormalities using the fluorescent in situ hybridization (FISH) technique with the ETV6(TEL)/RUNX1(AML1) ES dual color translocation probe. Conventional cytogenetic analyses were also performed. ETV6 and RUNX1 related chromosomal abnormalities were found in 42 (25.5 %) of the 165 patients with childhood ALL. Among these 42 patients, structural changes were detected in 33 (78.6 %) and numerical abnormalities in 9 (21.4 %). The frequency of FISH abnormalities in pediatric ALL cases were as follows: 8.5 % for t(12;21)(p13;q22) ETV6/RUNX1 fusion, 6.0 % for RUNX1 amplification, 3.0 % for tetrasomy/trisomy 21, 1.8 % for ETV6 deletion, 1.21 % for ETV6 deletion with RUNX1 amplification, 1.21 % for ETV6 amplification with RUNX1 amplification, 0.6 % for polyploidy, 0.6 % for RUNX1 deletion, and 0.6 % for diminished ETV6 signal. The most common structural abnormality was the t(12;21) translocation, followed by RUNX1 amplification and ETV6 deletion, while the most commonly observed numerical abnormality was trisomy 21. |
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